Varaico: Literature-Extracted Genetic Variants

SCN9A

740 papers

RefSeq Summary

This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associat...

Pfam Domains

Ion_transaa 125–412UCSCIon transport protein

Na_trans_cytoplaa 535–694UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 743–978UCSCIon transport protein

Na_trans_assocaa 982–1187UCSCSodium ion transport-associated

Ion_transaa 1191–1468UCSCIon transport protein

Ion_transaa 1514–1771UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 9

HGNC Alias Symbols

Nav1.7; PN1; NE-NA; NENA; ETHA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365536.1

p.R30K

c.89G>A

Surrounding Variants

1 paper

NM_001365536.1

p.I23_A28delFs

c.67_83del17

1 paper

NM_001365536.1

p.A28P

c.82G>C

1 paper

NM_001365536.1

p.E34K

c.100G>A

1 paper

NM_001365536.1

p.R26R

c.78C>G

1 paper

NM_001365536.1

p.R26G

c.76C>G

1 paper

NM_001365536.1

p.E34_P35insFs

c.102_103insG

1 paper

NM_001365536.1

p.P35A

c.103C>G

1 paper

NM_001365536.1

p.P35insFs

c.104_105insA

1 paper

NM_001365536.1

p.Q25*

c.73C>T

1 paper

NM_001365536.1

p.Q25K

c.73C>A

1 paper

NM_001365536.1

p.K36*

c.106A>T

1 paper

NM_001365536.1

p.E24_Q25insFs

c.72_73insT